@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_head
{
this:
np:hasAssertion
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_assertion
;
np:hasProvenance
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_provenance
;
np:hasPublicationInfo
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_assertion
a
np:Assertion
.
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_provenance
a
np:Provenance
.
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_assertion
{
miriam-gene:64342
a
ncit:C16612
.
lld:C0270736
a
ncit:C7057
.
dgn-gda:DGNfff3edb7d00f5b6f2b563b4261e3b7a6
sio:SIO_000628
miriam-gene:64342
,
lld:C0270736
;
a
sio:SIO_001122
.
}
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_provenance
{
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_assertion
dcterms:description
"[Compound heterozygous parkin mutations (EX 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:17353387
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP938909.RACxyePOVZfCoJA0Y0WgxoDeQ2hqgtB7VtyLpxLXn7MaE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:13+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}